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NEUROLOGY 2005;64:1411-1416
© 2005 American Academy of Neurology

Cystic leukoencephalopathy without megalencephaly

A distinct disease entity in 15 children

M. Henneke, MD, N. Preuss, MD, V. Engelbrecht, MD, F. Aksu, MD, E. Bertini, MD, G. Bibat, MD, K. Brockmann, MD, C. Hübner, MD, M. Mayer, MD, V. Mejaski-Bosnjak, MD, PhD, S. Naidu, MD, E. Neumaier-Probst, MD, D. Rodriguez, MD, PhD, W. Weisz, MD, A. Kohlschütter, MD and J. Gärtner, MD

From the Department of Pediatrics and Pediatric Neurology (Drs. Henneke, Preuss, Brockmann, and Gärtner), University of Göttingen, Göttingen, Germany; Institute of Diagnostic and Interventional Radiology (Dr. Engelbrecht), St. Marien Hospital, Amberg, Germany; Department of Neuropediatrics (Dr. Aksu), University of Witten-Herdecke, Datteln, Germany; Institute of Neurosciences (Dr. Bertini), Bambino Gesu Research Hospital, Rome, Italy; Kennedy Krieger Institute (Drs. Bibat and Naidu), Johns Hopkins University School of Medicine, Baltimore, MD; Department of Neuropediatrics (Dr. Hübner), Charité, University Medical School of Berlin, Berlin, Germany; Inserm, Department of Neuropediatrics (Dr. Mayer), Saint-Vincent de Paul Hospital, Paris, France; Department of Pediatrics (Dr. Mejaski-Bosnjak), Children’s Hospital Zagreb, University Medical School, Zagreb, Croatia; Department of Neuroradiology (Dr. Neumaier-Probst), University of Heidelberg/Mannheim, Mannheim, Germany; Inserm, Department of Neuropediatrics (Dr. Rodriguez), Armand Trousseau Hospital, Paris, France; Department of Pediatrics (Drs. Weisz and Kohlschütter), University Hospital Hamburg-Eppendorf, Hamburg, Germany.

Address correspondence and reprint requests to Dr. Jutta Gärtner, Department of Pediatrics and Pediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, 37075 Göttingen, Germany; e-mail: paediatrie2{at}med.uni-goettingen.de

Objective: To describe a distinctive syndrome of nonprogressive encephalopathy, normo- or microcephaly, and early onset of severe psychomotor impairment in 15 white patients, including two siblings and two first cousins.

Methods and Results: MRI revealed bilateral cysts in the anterior part of the temporal lobe and white matter abnormalities with pericystic abnormal myelination and symmetric lesions in frontal and occipital periventricular regions. None of the usual inborn errors of metabolism/infectious diseases associated with leukoencephalopathy and bilateral anterior temporal lobe cysts were detected.

Conclusions: These patients’ clinical signs and cranial MRI abnormalities are strikingly similar and may represent a distinctive disease with autosomal-recessive inheritance: cystic leukoencephalopathy without megalencephaly.

Supported by the Research Program, Faculty of Medicine, Georg August University, Göttingen (M.H.) and the Faculty of Medicine research grant from the Heinrich Heine University Düsseldorf (J.G.).

Received July 23, 2004. Accepted in final form December 27, 2004.




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